{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825484217",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 491,
          "referenceAllele": "I",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026113",
      "geneNCBI_id": 79600,
      "geneSymbol": "TCTN1",
      "hgvs": [
        "NP_001076006.1:p.Ile491Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239794",
          "hgvs": "NM_001082537.3:c.1471A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150837"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191182[alleleid]",
        "alleleId": 191182,
        "preferredName": "NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194019",
        "RCV": [
          "RCV000243338",
          "RCV000724004",
          "RCV001085845",
          "RCV003137704"
        ],
        "variationId": 194019
      }
    ]
  },
  "type": "amino-acid"
}